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Pediatric Neurology|March 25, 2014
Melkersson-Rosenthal syndrome with Hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorderYun-Jin Lee, Chong Kun Cheon, Gyu Min Yeon, et al.
BMC Medical Genetics|May 17, 2017
Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapyYoo-Mi Kim, Dong Hoon Shin, Su Bum Park, et al.
Annals of Pediatric Endocrinology & Metabolism|April 8, 2020
Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndromeYoo-Mi Kim, Yeoun Joo Lee, Soo Yeon Kim, et al.
Jugan Geon-Gang Gwa Jilbyeong|December 3, 2025
[Achievements and Expectations of the Rare Disease Diagnostic Support Program in the Republic of Korea]Ye Eun Lee, Jee Young Kim, Jun Kil Choi, et al.
Journal of Human Genetics|October 23, 2015
Unravelling the mechanism of action of enzyme replacement therapy in Fabry diseaseYounhee Ko, CheolHo Lee, Myeong Hee Moon, et al.
Brain & Development|September 19, 2020
The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigationSukdong Yoo, Young A Kim, Ju Young Yoon, et al.
Human Genomics|May 19, 2023
A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafishUnbeom Shin, Yeonsong Choi, Hwa Soo Ko, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|March 27, 2015
Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean populationChong-Kun Cheon, Hyo-Kyoung Nam, Kee-Hyoung Lee, et al.
Annals of Laboratory Medicine|January 20, 2012
A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversionJeong-Eun Kang, Mi Young Park, Chong Kun Cheon, et al.
Stem Cell Research|November 5, 2021
Generation of human induced pluripotent stem cell line, KRIBBi003-A, from urinary cells of a patient with glycogen storage disease type IXaYongbo Shin, Seon Ju Mun, Jaeseo Lee, et al.
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